|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
|
30352563 |
2018 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in some of these genes, including aspartyl-tRNA synthetase (DARS2), lead to the onset of a white matter disease-leukoencephalopathy with brainstem and spinal cord involvement, and lactate elevation (LBSL) characterized by progressive spastic ataxia and characteristic leukoencephalopathy signature with multiple long-tract involvements.
|
28985337 |
2017 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Here, we investigate six mutants of the aspartyl-tRNA synthetase correlated with leukoencephalopathies.
|
26620921 |
2015 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
|
26327357 |
2015 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology.
|
23643384 |
2013 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthetase).
|
23216004 |
2013 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.
|
22677571 |
2013 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
|
23652419 |
2013 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction.
|
22023289 |
2012 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Of interest, we found an intronic variant in DARS2, a gene involved in mitochondrial DNA translation, responsible for the syndrome of leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate.
|
21427441 |
2011 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy.
|
21121901 |
2011 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
|
Muscle Spasticity
|
0.110 |
Biomarker
|
phenotype |
BEFREE |
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column.
|
30352563 |
2018 |
|
Ataxia
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Our pathogenicity interpretation pathway predicted 13 different mutations in eight different genes: PRKCG, TTBK2, SETX, SPTBN2, SACS, MRE11, KCNC3 and DARS2 of which nine were novel including one causing a newly described recessive ataxia syndrome.
|
24030952 |
2013 |
|
Progressive cerebellar ataxia
|
0.110 |
Biomarker
|
disease |
BEFREE |
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction.
|
22023289 |
2012 |
|
Gait Ataxia
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
The patient presented with exercise-induced paroxysmal gait ataxia and areflexia as an atypical phenotype associated with a novel homozygous DARS2 mutation.
|
21749991 |
2011 |
|
Ataxia
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Muscle Spasticity
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Progressive cerebellar ataxia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Gait Ataxia
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
spinal cord involvement
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene.
|
30635318 |
2019 |
|
spinal cord involvement
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthetase).
|
23216004 |
2013 |
|
spinal cord involvement
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology.
|
23643384 |
2013 |
|
spinal cord involvement
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.
|
22677571 |
2013 |